Ontology highlight
ABSTRACT:
SUBMITTER: Uzilov AV
PROVIDER: S-EPMC5411693 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Uzilov Andrew V AV Cheesman Khadeen C KC Fink Marc Y MY Newman Leah C LC Pandya Chetanya C Lalazar Yelena Y Hefti Marco M Fowkes Mary M Deikus Gintaras G Lau Chun Yee CY Moe Aye S AS Kinoshita Yayoi Y Kasai Yumi Y Zweig Micol M Gupta Arpeta A Starcevic Daniela D Mahajan Milind M Schadt Eric E EE Post Kalmon D KD Donovan Michael J MJ Sebra Robert R Chen Rong R Geer Eliza B EB
Cold Spring Harbor molecular case studies 20170501 3
Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene <i>USP8</i> have been identified as recurrent and pathogenic and are the sole known molecular driver for CD. Although other somatic mutations were reported in these studies, their contribution to the pathogenesis of CD remains unexplored. No molecular drivers have been established for a large proportion of CD cases and tumor he ...[more]